Denise Maria Christofolini

OBJECTIVE: Preimplantation genetic testing improves rates of assisted reproductive technologies success by selecting euploid embryos, reducing implantation failures and miscarriages. However, some factors in women may also impact outcomes, …

Dynamic mutations in the 5' untranslated region of FMR1 are associated with infertility. Premutation alleles interfere with prenatal development and increase infertility risks. The number of CGG repeats that causes the highest decrease in o…

OBJECTIVE: The follicle-stimulating hormone subunit beta gene rs10835638 variant (c.-211G>T) may have detrimental effects on fertility and protective effects against endometriosis. A case-control analysis was performed, aiming to investigat…

OBJECTIVE: Single nucleotide variants have been implicated in the response to fertility treatment and a pharmacogenomic approach may help to customize therapy based on patient genome. We aimed to evaluate the effect, individual and combined…

Infertility is a worldwide concern, affecting one in six couples throughout their reproductive period. Therefore, enhancing the clinical tools available to identify the causes of infertility may save time, money, and emotional distress for …

Background: Homocysteine levels can be impacted by enzymes variations. Aim: To correlate MTHFR, MTR and MTRR variants with homocysteine levels in the blood and follicular fluid and assisted reproduction results. Material & methods:MTHFR (rs…

OBJECTIVE: To assess whether there is an association between the level of progesterone on the day of administration of human chorionic gonadotropin and clinical and laboratory characteristics, in addition to the results of in vitro fertiliz…

BACKGROUND: Single nucleotide variants (SNVs) FSHB:c.-211G>T, FSHR:c.919G>A, and FSHR:c.2039G>A were reported to be associated with the variability in FSH and LH levels, and in vitro fertilization (IVF) outcomes. In this study, we aimed to …

The etiology of endometriosis is highly complex, and although it is a benign disease, it has several biological behaviors similar to malignant lesions, including cell invasion, neo-angiogenesis, and decreased apoptosis. Survivin is a protei…

The STAT4 gene is vital to signaling pathways in the immune response. Immunological alterations are involved in the pathogenesis of endometriosis, and STAT4 polymorphisms may be linked to disease development. This study's aim is to evaluate…

A previous GWAS study performed on Brazilian pooled samples indicated some SNPs (single nucleotide polymorphisms) differentially frequent in infertile patients with endometriosis and controls. Some of them were located in the genes whose bi…

Endometriosis is an estrogen-dependent inflammatory disease that affects a large number of women in reproductive age. Follicle-stimulating hormone (FSH) plays a role in steroidogenesis and acts through a transmembrane glycoprotein, FSH rece…

OBJECTIVE: To evaluate PTPN22 C1858T polymorphism and the risk of endometriosis. METHODS: A meta-analysis of 10 published case-control studies (from four articles), with a total sample of 971 cases and 1,181 controls, was performed. We est…

ABSTRACT Objective To evaluate PTPN22 C1858T polymorphism and the risk of endometriosis. Methods A meta-analysis of 10 published case-control studies (from four articles), with a total sample of 971 cases and 1,181 controls, was performed. …

Introduction The IRF5 gene belongs to a family of transcription factors involved in modulating cell growth, differentiation, apoptosis, and immune system activity. A growing body of evidence indicates that immunological alterations are invo…

PURPOSE: Endometriosis is a gynecological disease influenced by multiple genetic and environmental factors. The aim of the current study was to use SNP-array technology to identify genomic aberrations that may possibly contribute to the dev…

Aspiration and ethanol sclerotherapy to treat recurrent ovarian endometriomas prior to in vitro fertilization – a pilot study Aspiração e alcoolização de endometriomas ovarianos recorrentes prévios ao tratamento de fertilização in vitro – e…

Background: Immunological theories suggest that changes in the immune system could prevent the ability to eliminate the endometrium of the pelvic cavity. In women with endometriosis is possible that changes in immunity mediated by T cells f…

BACKGROUND: Reported associations of the G241R and K469E polymorphisms of the intercellular adhesion molecule-1 gene (ICAM-1) gene with endometriosis have differed in magnitude. MATERIALS AND METHODS: In a meta-analysis of six published ca…

PURPOSE: Recently, several genome-wide association studies have demonstrated an association between endometriosis and markers located in or near to WNT4 gene. In order to assess the validity of the findings, we conducted a replication case-…

OBJECTIVE: To evaluate the frequency of polymorphism G-765C (rs20417) of the COX-2 gene and the expression of this gene in the endometrium of women with endometriosis. STUDY DESIGN: This is a case-control study of 365 women with endometrio…

AIM: We have hypothesized a possible relationship between disc degeneration (DD) and VDR FokI/T2C polymorphism. METHODS: A case-control study was performed comprising 121 Brazilian patients with confirmed DD by nuclear magnetic resonance a…

BACKGROUND: Reported associations of progesterone receptor gene polymorphism (PROGINS) with endometriosis have been inconsistent. AIM OF THE STUDY: To evaluate the association between the PROGINS polymorphism and the risk of endometriosis.…

PURPOSE: Estrogen metabolizing gene mutations can be associated with defective hormonal signaling leading to disease processes. Endometriosis is an estrogen dependent that can be influenced by defective signaling in the estrogen pathway. O…